By Deborah Hilcove
Twenty-two moms from Tempe and other parts of the United States—all filled with hope—recently gathered for a luncheon at Babbo’s Tempe restaurant and an opportunity to share the successes and frustrations of their ongoing battle against holoprosencephaly.
The condition, a congenital brain malformation with no cure and no standardized treatment—is the focus of their virtually nonstop diligence.
With their rare weekend collaboration, in which they were able to leave their children with dads and nurses, the seemingly never-ending responsibility of caring for a disabled child came to what all described as a brief but welcome respite .
Tempe resident Crystal Leon remarked that “a weekend of fun and companionship is such a blessing for us moms, and refreshing to get together, as we all can relate to each other when it comes to the care our medically fragile children need.”
Holoprosencephaly, or HPE, is a genetic disorder caused by the embryo’s forebrain failing to divide into left and right halves of the brain. This failure, which ranges from mild to severe and limits life expectancy, can cause defects in facial development and in the structure and function of the brain.
According to the Carter Centers for Brain Research, “It is estimated that HPE affects between one in every 5,000-10,000 live births.” The report suggests the incidence may be much higher, perhaps even one in 200-250, because “only 3% of all fetuses with HPE survive to delivery and the vast majority of these infants do not survive past the first six months of life.”
The weekend retreat at Babbo’s was organized by Heather Rinard, a southeast Valley advocate and board member for Families for Hope. She notes that several of the moms attending the retreat adopted children.
She says, “Some of the parents knew the children were affected, but about half didn’t know till symptoms began.
“With my own daughter, Charliedawn, she was just four days old and we were about to be discharged from the hospital. I noticed she couldn’t coordinate her breathing, sucking and swallowing. Her physical signs were fine, but some children are born with facial irregularities.”
“This moms’ weekend is important,” Rinard added. “The moms become isolated and have little freedom. You can’t use a regular babysitter. Charliedawn’s four and a half now. She has a one-on-one nurse on the bus and at school. She has therapy—physical, occupational, speech and vision. And she has a medical-alert dog to warn if she stops breathing, has a seizure or if her tracheostomy tube is dislodged.
A disability like HPE affects the entire family.
Says Rinard:
“You gotta have a sense of humor,” referring to the handicap decal on her car. Glitter-decorated, it reads, “Please leave room for the princess.” With a laugh, Rinard says, “Charliedawn loves gold sparkly anything. With something like HPE, you can either laugh or cry. We chose to laugh about it.”
Leon joins Rinard in acknowledging that “to be away from our kiddos is hard, but much needed.
We all need a break from the round-the-clock care we provide to our loved children who require so much.”
Rinard mentions the Families for Hope organization supporting families of unborn infants with HPE and those grieving the death of a child. Together with the Carter Center, the nonprofit works to provide families with more information about an HPE diagnosis, as well as funding geneticists and researchers to study the brain malformation.
“They’re exploring new treatments and technology,” she says. “We’re hopeful.”
